ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p23.3(chr2:25929370-26572068)x1
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
ASXL2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
461 | 490 | |
ADGRF3 | - | - | - |
GRCh38 GRCh37 |
79 | 102 |
GAREM2 | - | - |
GRCh38 GRCh37 |
14 | 573 | |
HADHA | - | - |
GRCh38 GRCh37 |
472 | 1039 | |
HADHB | - | - |
GRCh38 GRCh37 |
551 | 582 | |
KIF3C | - | - |
GRCh38 GRCh37 |
33 | 59 | |
RAB10 | - | - |
GRCh38 GRCh37 |
6 | 31 | |
SELENOI | - | - |
GRCh38 GRCh37 |
37 | 60 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986372.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024